Canonical Allele Identifier: PA658810654
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 520643
ClinVar RCV Id: RCV000624130 RCV000705701 RCV000733720
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Thr734Ala
CA10070790
NM_001848.3:c.2200A>G